HMGB1, high mobility group box 1, 3146

N. diseases: 724; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12861824
rs12861824 		13 30505047 intron variant T/C snv 0.26
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7330209
rs7330209 		13 30488053 intron variant T/A;C snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs9508759
rs9508759 		13 30497658 intron variant G/A;C snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs9579583
rs9579583 		13 30496075 intron variant T/C snv 0.81
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs9579583
rs9579583 		13 30496075 intron variant T/C snv 0.81
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs9579586
rs9579586 		13 30499729 intron variant G/C;T snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2012 2019
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2017
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.020 1.000 2 2012 2019
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2017
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2014 2017
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C0694549
Disease: Community acquired pneumonia
Community acquired pneumonia 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2249825
rs2249825 		0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018